chr5:1308437:G>A Detail (hg38)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:1,308,552-1,308,552 View the variant detail on this assembly version. |
hg38 | chr5:1,308,437-1,308,437 |
HGVS
[No Data.]
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.099 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.002 | Testicular Neoplasms | [Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell c... | GAD | 20543847 | Detail |
0.131 | Pancreatic Neoplasm | NA | GAD | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
[Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.] | DisGeNET | Detail |
NA | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs4635969 dbSNP
- Genome
- hg38
- Position
- chr5:1,308,437-1,308,437
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs4635969
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0986
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1653
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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